- Journal of Hereditary Diseases
- Peer reviewed
- Open access · CC BY 4.0
Aims and Scope
The Journal of Hereditary Diseases publishes research on inherited disease, including its causes, diagnosis, prevention and treatment, from the gene variant to the family and the clinic.
What JHD sets out to do
- Publish methodologically sound research that advances the understanding of inherited disease and the care of patients and families.
- Support responsible genetic testing, screening and counseling through research on their methods, outcomes and ethics.
- Make the results freely available to researchers, clinicians and the public under an open license.
Research the journal welcomes
JHD considers research in which an inherited or genetic contribution to disease is central, including single-gene, chromosomal, mitochondrial and multifactorial conditions. The topics below illustrate the range of work the journal considers, including but not limited to:
- Genetic disorders and hereditary diseases, rare and common
- Molecular and human genetics: genes, variants and mechanisms
- Genetic markers and biomarkers of inherited conditions
- Clinical, cytogenetic, molecular and genomic diagnosis
- Genetic testing and screening, including newborn and carrier screening
- Genetic counseling and the communication of results
- Genomic medicine and pharmacogenomics
- Gene therapy and other treatments for inherited disease
- Pediatric and prenatal genetics
- Inherited disorders of specific organ systems, such as the eye, skin, blood, nervous system and metabolism
- Population genetics and the epidemiology of inherited disease
- Epigenetics and mitochondrial genetics in disease
- Bioinformatics, computational methods and disease models
- Ethical, legal and social aspects of genetic testing and research
Work on conditions that are not primarily inherited is outside the scope unless a genetic or heritable contribution is central to the question studied.
What each kind of study reports
Patients and families
Ethics committee approval and informed consent, or a waiver documented by the ethics committee, where applicable. Family studies describe how consent and privacy were handled across related participants.
Animal and cellular models
Animal-ethics approval and reporting in line with the ARRIVE guidelines, where applicable.
Genetic and genomic data
Variants are described with standard nomenclature and classification criteria, and every empirical research manuscript includes a data-availability statement. See Data Archiving and Permissions.
Reviews and syntheses
Search strategy, selection criteria and synthesis methods are reported with the guideline for the design, such as PRISMA.
Formats the journal publishes
Each type is assessed by its own standards. Preparation guidance is given in the Instructions for Authors.
- Original ResearchClinical, laboratory, computational and population studies of inherited disease
- ReviewTopical syntheses of the evidence on hereditary disorders
- Systematic Review and Meta-AnalysisProtocol-based syntheses, with or without pooled analysis
- Case Report or Case SeriesIndividual patients, families or short series, including reports of new variants and genotype-phenotype findings
- Brief CommunicationConcise reports of a focused genetic or diagnostic finding
- Editorial or CommentaryEvidence-based perspectives on research, practice or policy
- Letter to the EditorBrief responses to articles published in JHD
Peer review and decisions
All submissions undergo initial editorial screening. Manuscripts that meet the journal's scope and minimum requirements proceed to independent peer review.
Single-blind by default; double-blind review is available on request. Manuscripts that proceed to external peer review are normally evaluated by at least two independent subject-matter experts.
Editorial decisions are based on scope, scientific quality, methodological rigor, ethical compliance, reporting quality, and relevance to the journal. The Editorial Policies set out the full standards.
Is your work a fit?
Questions about scope can be sent to the editorial office at info@openaccesspub.org.